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Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
- Published in:
- JNCI Cancer Spectrum, 2022, v. 6, n. 6, p. 1, doi. 10.1093/jncics/pkac074
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- Article
A mutation hotspot at the p14ARF splice site.
- Published in:
- Oncogene, 2005, v. 24, n. 28, p. 4604, doi. 10.1038/sj.onc.1208678
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- Publication type:
- Article
Melanoma Genomics.
- Published in:
- Acta Dermato-Venereologica, 2020, v. 100, p. 266, doi. 10.2340/00015555-3493
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- Article
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
- Published in:
- 2002
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- Publication type:
- journal article
Total serum N-glycans associate with response to immune checkpoint inhibition therapy and survival in patients with advanced melanoma.
- Published in:
- BMC Cancer, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12885-023-10511-3
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- Article
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma.
- Published in:
- Nature, 2011, v. 480, n. 7375, p. 99, doi. 10.1038/nature10630
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- Article
Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.
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- Journal of Pathology, 2023, v. 259, n. 1, p. 56, doi. 10.1002/path.6019
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- Article
A population-based analysis of germline BAP1 mutations in melanoma.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 4, p. 717, doi. 10.1093/hmg/ddw403
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- Publication type:
- Article
Genome-wide association study identifies three loci associated with melanoma risk.
- Published in:
- Nature Genetics, 2009, v. 41, n. 8, p. 920, doi. 10.1038/ng.411
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- Article
Deletion at chromosome arm 9p in relation to BRAF/ NRAS mutations and prognostic significance for primary melanoma.
- Published in:
- Genes, Chromosomes & Cancer, 2010, v. 49, n. 5, p. 425, doi. 10.1002/gcc.20753
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- Article
Prevalence of 9p21 deletions in UK melanoma families.
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 3, p. 292, doi. 10.1002/gcc.20238
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- Article
A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation.
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- Genes, Chromosomes & Cancer, 2005, v. 44, n. 1, p. 10, doi. 10.1002/gcc.20202
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- Article
Intronic sequence variants of the CDKN2A gene in melanoma pedigrees.
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- Genes, Chromosomes & Cancer, 2005, v. 43, n. 2, p. 128, doi. 10.1002/gcc.20177
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- Publication type:
- Article
Mutation screening of the CDKN2A promoter in melanoma families.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 28, n. 1, p. 45, doi. 10.1002/(SICI)1098-2264(200005)28:1<45::AID-GCC6>3.0.CO;2-F
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- Publication type:
- Article
A deep intronic mutation in CDKN2A is associated with disease in a subset ofmelanoma pedigrees.
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- Human Molecular Genetics, 2001, v. 10, n. 23, p. 2679, doi. 10.1093/hmg/10.23.2679
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- Publication type:
- Article
A germline deletion of p14[sup ARF] but not CDKN2A in a melanoma-neural system tumour syndrome family.
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- Human Molecular Genetics, 2001, v. 10, n. 1, p. 55, doi. 10.1093/hmg/10.1.55
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- Publication type:
- Article
Germline Mutations of the CDKN2 Gene in UK Melanoma Families.
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- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2061, doi. 10.1093/hmg/6.12.2061
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- Publication type:
- Article
POT1 loss-of-function variants predispose to familial melanoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 478, doi. 10.1038/ng.2947
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- Article
Genome-wide association study identifies three new melanoma susceptibility loci.
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- Nature Genetics, 2011, v. 43, n. 11, p. 1108, doi. 10.1038/ng.959
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- Publication type:
- Article
Germline TERT promoter mutations are rare in familial melanoma.
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- Familial Cancer, 2016, v. 15, n. 1, p. 139, doi. 10.1007/s10689-015-9841-9
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- Article
Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma.
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- JNCI: Journal of the National Cancer Institute, 2015, v. 107, n. 2, p. 1, doi. 10.1093/jnci/dju408
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- Publication type:
- Article
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma.
- Published in:
- 2015
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- Publication type:
- journal article
Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.
- Published in:
- Hereditary Cancer in Clinical Practice, 2014, v. 12, n. 1, p. 1, doi. 10.1186/1897-4287-12-20
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- Article
Ulcerated melanoma: Systems biology evidence of inflammatory imbalance towards pro‐tumourigenicity.
- Published in:
- Pigment Cell & Melanoma Research, 2022, v. 35, n. 2, p. 252, doi. 10.1111/pcmr.13023
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- Publication type:
- Article
MX 2 is a novel regulator of cell cycle in melanoma cells.
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- Pigment Cell & Melanoma Research, 2020, v. 33, n. 3, p. 446, doi. 10.1111/pcmr.12837
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- Publication type:
- Article
The CDKN2A/p16 <sup> INK</sup><sup> 4a</sup> 5′ UTR sequence and translational regulation: impact of novel variants predisposing to melanoma.
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- Pigment Cell & Melanoma Research, 2016, v. 29, n. 2, p. 210, doi. 10.1111/pcmr.12444
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- Article
The clinicopathological and gene expression patterns associated with ulceration of primary melanoma.
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- Pigment Cell & Melanoma Research, 2015, v. 28, n. 1, p. 94, doi. 10.1111/pcmr.12315
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- Article
An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a Bio Geno MEL study.
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- Pigment Cell & Melanoma Research, 2014, v. 27, n. 2, p. 234, doi. 10.1111/pcmr.12193
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- Article
Evaluation of PAX3 genetic variants and nevus number.
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- Pigment Cell & Melanoma Research, 2013, v. 26, n. 5, p. 666, doi. 10.1111/pcmr.12130
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- Publication type:
- Article
Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study.
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- Pigment Cell & Melanoma Research, 2012, v. 25, n. 3, p. 384, doi. 10.1111/j.1755-148X.2012.00982.x
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- Publication type:
- Article
Primary Melanoma Tumors from CDKN2A Mutation Carriers Do Not Belong to a Distinct Molecular Subclass.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 12, p. 3000, doi. 10.1038/jid.2014.272
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- Article
The determinants of serum vitamin D levels in participants in a melanoma case-control study living in a temperate climate.
- Published in:
- 2011
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- Publication type:
- journal article
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 17, p. 2845, doi. 10.1093/hmg/ddac074
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- Article
Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.
- Published in:
- International Journal of Cancer, 2015, v. 136, n. 6, p. 1351, doi. 10.1002/ijc.29099
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- Article
Inherited variation in the PARP1 gene and survival from melanoma.
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- International Journal of Cancer, 2014, v. 135, n. 7, p. 1625, doi. 10.1002/ijc.28796
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- Publication type:
- Article
Revisiting p38 Mitogen-Activated Protein Kinases (MAPK) in Inflammatory Arthritis: A Narrative of the Emergence of MAPK-Activated Protein Kinase Inhibitors (MK2i).
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- Pharmaceuticals (14248247), 2023, v. 16, n. 9, p. 1286, doi. 10.3390/ph16091286
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- Article
Somatic BRAF and NRAS Mutations in Familial Melanomas with Known Germline CDKN2A Status: A GenoMEL Study.
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- Journal of Investigative Dermatology, 2014, v. 134, n. 1, p. 287, doi. 10.1038/jid.2013.270
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- Publication type:
- Article
A Flexible Multiplex Bead-Based Assay for Detecting Germline CDKN2A and CDK4 Variants in Melanoma-Prone Kindreds.
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- Journal of Investigative Dermatology, 2011, v. 131, n. 2, p. 480, doi. 10.1038/jid.2010.331
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- Publication type:
- Article
Genotype/Phenotype and Penetrance Studies in Melanoma Families with Germline CDKN2A Mutations.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 1, p. 28, doi. 10.1046/j.1523-1747.2000.00823.x
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- Publication type:
- Article